Meet Our Researchers
Amit Khera hopes to prevent heart attacks by understanding the genetic mutations behind cardiovascular disease.
What genetic mutations drive the risk of cardiovascular disease? Amit wants to find out. His research focuses on the clinical interpretations of genetic risk, the smartest ways to communicate genetic risk to patients, and how doctors and patients can modify genetic risk through medicine or lifestyle changes.
Sudden cardiac death causes 325,000 deaths a year in the United States. Though we can use genetic testing for certain groups of patients, like those with high cholesterol, we don’t know the biomarkers for most patients at risk of this fatal condition. One place to start is with the genetic mutations associated with the four significant causes of sudden cardiac death: heart attacks, tears in a major blood vessel, abnormal heart structure, and electrical problems in the heart. If we can identify genetic variants associated with these four causes, can we then make genetic testing a more useful clinical tool, to a wider set of patients?
Our team will use new analytics and computational methods to connect the variants associated with sudden cardiac death to the measurable data we gather from patients: high cholesterol, to be sure, but also heart pumping function and electrical tracings from heart intervals. Collaborating with Partners HealthCare Personalized Medicine, we’ll use bioinformatics filters to narrow down our initial list of variants from tens of thousands to a few hundreds. We’ll then take the final step: narrowing the list to where, if you were a patient’s doctor, you’d be comfortable handing them a report saying they have a variant that increases risk.